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1.
Childs Nerv Syst ; 40(7): 2199-2207, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38578478

RESUMEN

Subependymal giant cell astrocytoma (SEGA) represents a benign brain tumor occurring in 5-20% of individuals diagnosed with tuberous sclerosis complex (TSC), serving as a major diagnostic criterion. The presence of SEGA in a patient often prompts consideration of TSC as a probable diagnosis, given its unique association with this disorder. Typically, only one additional major criterion or two minor criteria are necessary to fulfill the diagnostic criteria for TSC. However, in rare instances, SEGA may manifest in patients without clinical features of TSC, termed solitary SEGA. The occurrence of solitary SEGA in patients lacking both clinical manifestations of TSC and genetic confirmation is extremely rare. Furthermore, the presentation of SEGA with intratumoral bleeding is exceedingly uncommon. Here, we presented a case of bleeding solitary SEGA in non-TSC adolescent who underwent surgery and has remained free of disease for a minimum of 3 years. Genetic analysis of peripheral blood and tumor tissue yielded negative results for TSC-related mutations. While SEGA occurrence in non-TSC patients is uncommon, it remains one of the possible diagnoses of intraventricular tumors. However, comprehensive genetic and physical evaluations are imperative to confirm the TSC status and guide further investigations and follow-up appropriately.


Asunto(s)
Astrocitoma , Adolescente , Humanos , Astrocitoma/complicaciones , Astrocitoma/genética , Astrocitoma/cirugía , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/complicaciones , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/genética
3.
Childs Nerv Syst ; 39(11): 3327-3331, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37380926

RESUMEN

INTRODUCTION: Pediatric arteriovenous malformation (pAVM) is one of the most common vascular entities in non-traumatic intracerebral hemorrhage (ICH) in children. To diagnose arteriovenous malformation (AVM), digital subtraction angiography (DSA) is the gold standard investigation because it can provide sufficient dynamic information about the AVM. In extremely rare occasions, angiography is unable to detect an AVM because the AVM is spontaneously occluded. All reported cases found by authors in the literature had already been diagnosed with AVM by angiography or other vascular studies before the AVM occlusion. CASE PRESENTATION: We present a case of a 4-year-old girl who presented with left occipital ICH with atypical calcification. Based on history and investigation, pAVM was the most likely diagnosis. However, preoperative angiography was negative for pAVM and for shunting. Bleeding tumor was then suspected instead. After resection, pathological diagnosis confirmed pAVM. CONCLUSION: Our case demonstrates that DSA, despite being considered the gold standard, cannot always diagnose pAVM. The mechanism of spontaneous AVM occlusion remains unknown.


Asunto(s)
Malformaciones Arteriovenosas Intracraneales , Preescolar , Femenino , Humanos , Angiografía de Substracción Digital , Hemorragia , Malformaciones Arteriovenosas Intracraneales/complicaciones , Malformaciones Arteriovenosas Intracraneales/diagnóstico por imagen , Malformaciones Arteriovenosas Intracraneales/cirugía , Procedimientos Quirúrgicos Vasculares
5.
Int J Surg Case Rep ; 85: 106147, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34256234

RESUMEN

INTRODUCTION: Medulloblastoma (MDB) often causes signs and symptoms of elevated intracranial pressure (ICP) with imaging findings of mass lesion. Here, we report a case of MDB who initially presented with clinical features imitating idiopathic intracranial hypertension (IIH) and Chiari I malformation (CIM). CASE PRESENTATION: A 19-year-old man had clinical symptoms of elevated ICP without mass lesion on imaging. He was initially diagnosed with IIH and CIM, which underwent shunt surgery and posterior fossa decompression. Later on, he had recurrent symptoms, and the new imaging revealed the development of MDB in the right cerebellar hemisphere. After tumor resection, the patient rapidly deteriorated with spinal metastases. DISCUSSION AND CONCLUSION: Management of the coexistence between IIH and CIM in patients with rising ICP is complicated. MDB is one of the aggressive malignant brain tumors showing a wide range of imaging features, including non-enhancing mass. Therefore, recognizing the possibility of brain tumors mimicking IIH or CIM is crucial.

6.
Urol Case Rep ; 34: 101497, 2021 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-33294379

RESUMEN

The endometriosis in the Canal of Nuck is a rare condition. Most patients exhibited groin swelling but this case present with a rare condition which is suprapubic pain for 2 years. This case is a 34-year-old healthy woman had developed chronic intermittent right suprapubic pain for 2 years. Physical examination revealed a 2-cm. Reducible mass at right suprapubic area. MRI was performed and the result showed a 2.7 × 1.3 × 4.9 cm-size multiloculated cystic mass located near the round ligament of the uterus which was consistent with a Nuck's canal cyst. The definitive treatment was done by excision of mass.

7.
Childs Nerv Syst ; 33(5): 839-842, 2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-28013334

RESUMEN

BACKGROUND: Cerebellar medulloblastomas (MBs) are one of the most common posterior fossa tumors in children but rarely occur in the cerebellopontine angle (CPA). Only 39 cases of CPA MBs were reported in the literature, and most of them were classic and desmoplastic MBs. CASE PRESENTATION: A 22-month-old girl presented with progressive cerebellar ataxia. Magnetic resonance imaging showed a large tumor in the right CPA and obstructive hydrocephalus. Surgical resection was performed and achieved total tumor removal. Microscopic examination and immunohistochemical staining revealed the diagnosis of MB with extensive nodularity. The patient recovered from her symptoms during follow-up and was transferred for adjuvant chemotherapy. CONCLUSION: MB should be considered as a differential diagnosis of a lesion in the CPA. The treatment and outcome of CPA MBs are similar to cerebellar MBs.


Asunto(s)
Neoplasias Cerebelosas/diagnóstico por imagen , Ángulo Pontocerebeloso/diagnóstico por imagen , Meduloblastoma/diagnóstico por imagen , Neoplasias Cerebelosas/patología , Neoplasias Cerebelosas/cirugía , Ángulo Pontocerebeloso/patología , Ángulo Pontocerebeloso/cirugía , Femenino , Estudios de Seguimiento , Humanos , Lactante , Meduloblastoma/patología , Meduloblastoma/cirugía
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